Genopathy
Gene-Disorder Association · Article
Gene
CTRC
Chymotrypsin C
Disorder
Pancreatitis, Hereditary
First reported 2008
Supporting publications 11
Key publication · gene–disorder Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.Nature genetics · 2008
Key publication · disorder Chronic pancreatitis and lithiasis; pathology and pathogenesis of pancreatic lithiasis.The American journal of pathology · 1950
Manually curated
Association Review

In brief

The association between CTRC (Chymotrypsin C) and Pancreatitis, Hereditary is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, causative variation, and a susceptibility locus.

Sources 5
Clinical variants 651
Symptoms 27
Compounds 0
Trials 0
Publications 11
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

5 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
CTRC

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Pancreatitis, Hereditary

The disorder

15 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

16 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

651 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

11 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

16 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access